NOD2/CARD15 polymorphisms (P268S, IVS8+158, G908R, L1007fs, R702W) among Kuwaiti patients with Crohn's disease: A case-control study.

Abstract

Background:

Nucleotide-binding oligomerization domain-containing two (NOD2/CARD15) gene polymorphisms are implicated in the pathogenesis of Crohn's disease (CD).

Aim:

To describe the allelic frequency of NOD2/CARD15 gene variants among Kuwaiti patients with CD and investigate potential genotype/phenotype associations.

Methods:

Adult Kuwaiti citizens with an established diagnosis of CD and healthy controls were enrolled from October 2018 to May 2020. Three common NOD2/CARD15 polymorphisms (R702W, G908R, and L1007fs) and P268S and IVS8+158 polymorphisms were screened by polymerase chain reaction/restriction analysis length polymorphism (PCR/RFLP).

Results:

Ninety adult Kuwaiti patients with CD and 210 healthy subjects (as controls) were recruited. P268S, IVS8+158, G908R, and R702W minor alleles were identified in 38.9%, 21.1%, 12.2%, and 4.4% of CD patients, respectively. NOD2/CARD15 polymorphisms coexisted in 35 healthy controls (16.7%) and 21 CD patients (23.3%). Individuals with either a single or multiple polymorphism were approximately two times more likely to have CD than those with no polymorphism. Patients with multiple polymorphisms had significantly more stricturing and penetrating disease.

Conclusion:

NOD2/CARD15 gene polymorphisms were significantly associated with an increased risk of disease and aggressive phenotypes among the Kuwaiti CD population.

• Authors: Hassan Abdelnaby, Ndeye Coumba Ndiaye, Ferdinando D'Amico, Ahmed Mahmoud Fouad, Sameh Hassan, Alaa Elshafey, Wafaa Al Hashash, Mohammed Faisal, Yousef Alshamali, Talal Al-Taweel, Laurent Peyrin-Biroulet
• Journal: Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association (Saudi J Gastroenterol) 2021 Jul-Aug Vol. 27 Issue 4 Pg. 249-256 ISSN: 1998-4049 [Electronic] India
• PMID: 34341249 (Publication Type: Journal Article)

Chemical References

• NOD2 protein, human
• Nod2 Signaling Adaptor Protein

Topics

• Case-Control Studies
• Crohn Disease (epidemiology, genetics)
• Genetic Predisposition to Disease
• Genotype
• Humans
• Mutation
• Nod2 Signaling Adaptor Protein (genetics)
• Phenotype
• Polymorphism, Genetic